Rubinstein-Taybi Syndrome in a Toddler with Refractory Seizures and Congenital Heart Disease: A Case Report

Rubinstein-Taybi Syndrome (RTS) is a rare congenital genetic disorder characterised by distinctive facial dysmorphism, broad thumbs and halluces, postnatal growth retardation, intellectual disability, and variable multisystem involvement. It is most commonly caused by pathogenic variants in the CREB-Binding Protein (CREBBP) gene and less frequently by mutations in the EP300 (E1A-binding protein p300) gene. Owing to marked phenotypic variability and overlap with other syndromic conditions, diagnosis is often delayed, particularly in early childhood. Neurological manifestations such as seizures, although relatively uncommon, are clinically significant and may be severe. The present case report describes an 18-month-old male child who presented with fever, respiratory symptoms, and refractory generalised tonic-clonic seizures. The patient had a history of recurrent pneumonia and had previously undergone surgical correction for Congenital Heart Disease (CHD), including ventricular septal defect and patent ductus arteriosus. Developmental evaluation revealed global developmental delay with growth retardation. Physical examination showed microcephaly, characteristic facial dysmorphism, broad thumbs and halluces, and bilateral cryptorchidism. Neuroimaging demonstrated ventriculomegaly with a periventricular granulomatous lesion. Cerebrospinal fluid culture grew Candida species. Whole-exome sequencing later identified a pathogenic CREBBP gene variant, confirming RTS type 1. The present case highlights the importance of recognising the characteristic clinical constellation of RTS in children presenting with seizures and CHD. Early diagnosis facilitates appropriate multidisciplinary management, anticipatory guidance, and genetic counselling. Reporting the current case adds to the limited literature on severe neurological presentations of RTS and underscores the need for heightened clinical awareness.